MFAP5

microfibril associated protein 5
OMIM: 601103, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber MFAP5 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Aortic aneurysm, familial thoracic MIM# 616166
  • MONDO:0014514

Amber MFAP5 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Aortic aneurysm, familial thoracic MIM# 616166
  • MONDO:0014514

Amber MFAP5 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Aortic aneurysm, familial thoracic MIM# 616166
  • MONDO:0014514